A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome

被引：26

作者：

Okamoto, N

Yagi, M

Imura, K

Wada, Y

机构：

[1] Osaka Med Ctr, Dept Planning & Res, Izumo, Osaka 5941101, Japan

[2] Res Inst Maternal & Child Hlth, Izumo, Osaka 5941101, Japan

[3] Osaka Med Ctr, Dept Pediat Surg, Osaka, Japan

[4] Osaka Med Ctr, Dept Mol Med, Osaka, Japan

来源：

JOURNAL OF HUMAN GENETICS | 1999年 / 44卷 / 05期

关键词：

Simpson-Golabi-Behmel syndrome; overgrowth syndrome; glypican-3; IGF-2; proteoglycan;

D O I：

10.1007/s100380050170

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Simpson-Golabi-Behmel syndrome (SGBS) is one of the overgrowth syndromes. Microdeletions of the glypican-3 (GPC3) gene were described by Pilia et al. (1996). Glypican-3 encodes a putative extracellular proteoglycan which is expressed in embryonic mesodermal tissues and plays an important role in embryonal growth. We report a Japanese patient with SGBS who had a single base deletion in the exon 7 of the GPC3 gene. This is the first report of a single base deletion of the GPC3 gene.

引用

页码：327 / 329

页数：3

共 17 条

[1] A NEW X-LINKED DYSPLASIA GIGANTISM SYNDROME - IDENTICAL WITH THE SIMPSON DYSPLASIA SYNDROME [J].